Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Seizures: Classification01:13

Seizures: Classification

911
Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
911
Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

824
Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
824
Antiepileptic Drugs: Potassium Channel Activators01:20

Antiepileptic Drugs: Potassium Channel Activators

423
Ezocgabine or retigabine, an antiepileptic drug of remarkable efficacy, has revolutionized the management of seizures. It is a potassium channel activator, explicitly targeting the family of Q subtype potassium channels. It enhances the transmembrane potassium currents, regulating neuronal excitability. This action stabilizes the resting membrane potential, a pivotal factor in mitigating the hyperexcitability that characterizes epilepsy.
Ezogabine has gained approval as an adjunctive treatment...
423
Antiepileptic Drugs: Sodium Channel Blockers01:08

Antiepileptic Drugs: Sodium Channel Blockers

1.3K
Antiepileptic drugs are specialized medications that prevent seizures in individuals diagnosed with epilepsy. These drugs primarily function by blocking the movement of sodium ions through channels in the neuronal membrane, inhibiting the repetitive firing of action potentials often associated with seizures.
Sodium channel blockers modulate ion channels, particularly voltage-gated sodium channels. They block only sodium ion movement.
Among the most commonly prescribed antiepileptic drugs are...
1.3K
Antiepileptic Drugs: GABAergic Pathway Potentiators01:18

Antiepileptic Drugs: GABAergic Pathway Potentiators

930
γ-aminobutyric acid or GABA, plays a pivotal role as an inhibitory neurotransmitter in the brain. GABA pathway potentiators, also known as GABAergic drugs, are a class of pharmaceutical agents designed to enhance the functioning of the GABAergic system. These medications primarily treat epilepsy, a neurological disorder characterized by recurrent seizures.
The key GABA pathway potentiators used in epilepsy management are as follows.
Benzodiazepines are a well-known class of drugs used for...
930
Antiepileptic Drugs: Glutamate Antagonists01:14

Antiepileptic Drugs: Glutamate Antagonists

683
Glutamate is a fundamental neurotransmitter in the central nervous system, playing a vital role in neuronal communication and various cognitive processes. Glutamate stands as the principal excitatory neurotransmitter in the brain. Its presence is crucial for the communication between neurons, underpinning essential processes such as synaptic transmission, neuronal excitability, and plasticity. These functions are vital for higher-order cognitive processes, including learning and memory. The...
683

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Respiratory Variability and Sudden Unexpected Death in Epilepsy: Could It Identify Patients at Greatest Risk?

Neurology·2026
Same author

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.

HGG advances·2026
Same author

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Neurology·2026
Same author

Diverse Genetic Etiologies of Unilateral Polymicrogyria.

Annals of neurology·2026
Same author

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy.

Developmental medicine and child neurology·2026
Same author

Early death and neuronal abnormalities in <i>depdc5</i> loss-of-function mosaic zebrafish models.

bioRxiv : the preprint server for biology·2025

Related Experiment Video

Updated: Nov 16, 2025

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
09:57

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization

Published on: September 20, 2024

3.1K

KCNQ2-DEE: developmental or epileptic encephalopathy?

Anne T Berg1,2, Sonal Mahida3, Annapurna Poduri3,4,5

  • 1Division of Neurology, Epilepsy Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.

Annals of Clinical and Translational Neurology
|February 22, 2021
PubMed
Summary

Children with KCNQ2-associated developmental and epileptic encephalopathies (DEE) experience severe functional impairments despite often well-controlled seizures. Seizure control and variant location did not correlate with impairment severity, highlighting the need for sensitive clinical endpoints in future precision therapy trials.

More Related Videos

Simultaneous Video-EEG-ECG Monitoring to Identify Neurocardiac Dysfunction in Mouse Models of Epilepsy
11:54

Simultaneous Video-EEG-ECG Monitoring to Identify Neurocardiac Dysfunction in Mouse Models of Epilepsy

Published on: January 29, 2018

26.3K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.9K

Related Experiment Videos

Last Updated: Nov 16, 2025

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
09:57

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization

Published on: September 20, 2024

3.1K
Simultaneous Video-EEG-ECG Monitoring to Identify Neurocardiac Dysfunction in Mouse Models of Epilepsy
11:54

Simultaneous Video-EEG-ECG Monitoring to Identify Neurocardiac Dysfunction in Mouse Models of Epilepsy

Published on: January 29, 2018

26.3K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.9K

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatric Neurology

Background:

  • KCNQ2-associated developmental and epileptic encephalopathies (DEE) are characterized by seizures and developmental delays.
  • The relationship between seizure activity, functional impairments, and specific genetic variants in KCNQ2-DEE remains poorly understood.

Purpose of the Study:

  • To investigate the association between seizure control and functional impairments in children with KCNQ2-DEE.
  • To determine if the location of KCNQ2 genetic variants correlates with seizure control.

Main Methods:

  • A natural history survey collected data from parents of children with KCNQ2 variants on seizure history and functional domains (mobility, hand use, communication, feeding).
  • Nonparametric bivariate analyses and multivariable logistic regression were employed to analyze the data.

Main Results:

  • Thirty-nine children with KCNQ2 variants were analyzed, with a median seizure onset at 1 day.
  • Severe functional impairments were common, affecting mobility (62%), feeding (59%), and communication (77%), with 72% impaired in at least two domains.
  • No significant association was found between seizure recency, variant location, and the severity or number of functional impairments.

Conclusions:

  • Children with KCNQ2-DEE exhibit significant functional impairments irrespective of seizure control.
  • Identifying sensitive clinical endpoints is crucial for developing and evaluating precision therapies targeting the KCNQ2 gene or KCNQ2 channel.